Neurology / Neuropediatrics

• Proteus syndrome (frequent somatic mutation, p.Glu17Lys on AKT1 gene) + info
   
• Psychomotor development delay (various syndromes, deletion/duplication analysis) + info
   
• Pyridoxamine 5'-phosphate oxidase deficiency (deletion/duplication analysis on PNPO gene) + info
   
• Pyridoxamine 5'-phosphate oxidase deficiency (sequence analysis of PNPO gene) + info
   
• Pyruvate carboxylase deficiency (deletion/duplication analysis on PC gene) + info
   
• Pyruvate carboxylase deficiency (NGS panel of 6 genes) + info
   
• Pyruvate carboxylase deficiency (sequence analysis of PC gene) + info
   
• Pyruvate carboxylase deficiency (WES based NGS panel of 25 genes, including CNV analysis) + info
   
• Pyruvate dehydrogenase E1-alpha deficiency (deletion/duplication analysis on PDHA1 gene) + info
   
• Pyruvate dehydrogenase E1-alpha deficiency (sequence analysis of PDHA1 gene) + info
   
• Pyruvate dehydrogenase E1-beta deficiency (sequence analysis of PDHB gene) + info
   
• Pyruvate dehydrogenase E2 deficiency (sequence analysis of DLAT gene) + info
   
• Pyruvate dehydrogenase phosphatase deficiency (sequence analysis of PDP1 gene) + info
   
• Reanalysis and interpretation of Disease Exome (realignment and reanalysis of variants) + info
   
• Reanalysis and interpretation of NGS panels (realignment and reanalysis of variants) + info
   
• Reanalysis and interpretation of WES (realignment and reanalysis of variants) + info
   
• Recessives ataxias (deletion/duplication analysis on SETX, APTX and FXN genes) + info
   
• Refsum disease (sequence analysis of PEX7 gene) + info
   
• Refsum disease (sequence analysis of PHYH gene) + info
   
• Renpenning syndrome (deletion/duplication analysis on PQBP1 gene) + info
   

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